Mutagenetix > Incidental Mutation

Incidental Mutation 'R6134:Rp1l1'

487301

Institutional Source

Beutler Lab

Gene Symbol

Rp1l1

Ensembl Gene

ENSMUSG00000046049

Gene Name

retinitis pigmentosa 1 homolog like 1

Synonyms

Dcdc4, Rp1hl1

MMRRC Submission

044281-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64229880-64270955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64267545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1044 (P1044S)

Ref Sequence

ENSEMBL: ENSMUSP00000055449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058229]

AlphaFold

Q8CGM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000058229
AA Change: P1044S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: P1044S

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
DCX	37	121	1.58e-13	SMART
DCX	155	239	1e-15	SMART
low complexity region	709	728	N/A	INTRINSIC
low complexity region	870	884	N/A	INTRINSIC
low complexity region	1159	1177	N/A	INTRINSIC
low complexity region	1228	1239	N/A	INTRINSIC
low complexity region	1612	1618	N/A	INTRINSIC
low complexity region	1642	1652	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224314

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

94% (51/54)

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,767,619 (GRCm39)	E39K	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aktip	T	A	8: 91,856,388 (GRCm39)	S30C	probably damaging	Het
Anxa10	G	T	8: 62,530,977 (GRCm39)	H78N	probably damaging	Het
Aoah	C	T	13: 21,095,293 (GRCm39)	R196W	probably damaging	Het
Arl4c	A	T	1: 88,629,152 (GRCm39)	W79R	probably damaging	Het
Brd2	A	T	17: 34,332,669 (GRCm39)	D178E	probably benign	Het
Cacna1e	G	A	1: 154,577,037 (GRCm39)	P120L	probably damaging	Het
Cdh16	A	T	8: 105,342,697 (GRCm39)	M17K	probably benign	Het
Cdhr17	A	T	5: 17,029,683 (GRCm39)	D473V	probably damaging	Het
Chit1	A	G	1: 134,071,798 (GRCm39)	T103A	possibly damaging	Het
Clcn3	T	C	8: 61,387,607 (GRCm39)	Y214C	probably damaging	Het
Coch	T	A	12: 51,649,536 (GRCm39)	D282E	probably damaging	Het
Col1a2	C	A	6: 4,538,035 (GRCm39)	S1181R	unknown	Het
Col6a2	T	C	10: 76,442,978 (GRCm39)	D506G	probably damaging	Het
Crx	A	T	7: 15,602,032 (GRCm39)	Y215*	probably null	Het
Fasn	A	T	11: 120,713,012 (GRCm39)	S58T	probably benign	Het
Fhip1a	T	C	3: 85,580,651 (GRCm39)	E518G	possibly damaging	Het
Garem1	A	T	18: 21,262,881 (GRCm39)	D644E	probably benign	Het
H2-Q2	A	C	17: 35,562,217 (GRCm39)	T155P	probably damaging	Het
Insr	A	T	8: 3,242,572 (GRCm39)	I49N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lnpep	A	G	17: 17,773,454 (GRCm39)	M639T	probably benign	Het
Lypd11	G	A	7: 24,425,481 (GRCm39)	A3V	probably damaging	Het
Map3k20	C	T	2: 72,240,503 (GRCm39)	S333F	probably damaging	Het
Miga2	A	G	2: 30,261,229 (GRCm39)	S175G	probably benign	Het
Muc3a	A	T	5: 137,244,579 (GRCm39)	I191N	probably damaging	Het
Ncoa2	A	G	1: 13,244,595 (GRCm39)	V701A	probably damaging	Het
Nid2	T	C	14: 19,828,851 (GRCm39)	V565A	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Numbl	G	C	7: 26,980,739 (GRCm39)	A574P	probably damaging	Het
Oas3	A	G	5: 120,907,113 (GRCm39)	V508A	unknown	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pcdhb21	T	A	18: 37,647,461 (GRCm39)	S197T	probably benign	Het
Pck2	T	A	14: 55,781,419 (GRCm39)	M180K	probably damaging	Het
Pgr	T	C	9: 8,900,740 (GRCm39)	V91A	possibly damaging	Het
Phtf1	A	T	3: 103,911,721 (GRCm39)	M643L	probably damaging	Het
Prokr1	T	C	6: 87,565,837 (GRCm39)	T3A	possibly damaging	Het
Ptgs1	T	C	2: 36,141,190 (GRCm39)	Y546H	probably damaging	Het
Rasa1	A	G	13: 85,374,745 (GRCm39)	L742P	probably benign	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,107,194 (GRCm39)	L64P	probably damaging	Het
Rnf213	A	T	11: 119,302,296 (GRCm39)	I407F	probably damaging	Het
Scin	G	A	12: 40,110,578 (GRCm39)	P690L	probably damaging	Het
Septin9	T	C	11: 117,242,987 (GRCm39)	L58P	probably damaging	Het
Slc1a7	A	G	4: 107,869,633 (GRCm39)	E566G	probably damaging	Het
Speer4f1	G	A	5: 17,681,140 (GRCm39)	R6Q	probably benign	Het
Tnxb	A	T	17: 34,890,986 (GRCm39)	Y443F	probably damaging	Het
Trpv1	A	G	11: 73,135,143 (GRCm39)	I79V	probably benign	Het
Ttll6	C	T	11: 96,030,568 (GRCm39)	T245I	possibly damaging	Het
Vmn2r26	T	C	6: 124,038,444 (GRCm39)	I673T	probably damaging	Het
Zfp60	T	C	7: 27,449,323 (GRCm39)	F664L	probably benign	Het

Other mutations in Rp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Rp1l1	APN	14	64,266,174 (GRCm39)	missense	probably benign	0.01
IGL02063:Rp1l1	APN	14	64,266,985 (GRCm39)	missense	probably damaging	0.99
IGL02132:Rp1l1	APN	14	64,266,259 (GRCm39)	missense	probably benign
IGL02430:Rp1l1	APN	14	64,266,735 (GRCm39)	missense	probably benign	0.00
IGL02977:Rp1l1	APN	14	64,265,599 (GRCm39)	missense	probably benign	0.01
IGL03213:Rp1l1	APN	14	64,265,864 (GRCm39)	missense	probably damaging	0.98
IGL03346:Rp1l1	APN	14	64,266,889 (GRCm39)	missense	probably benign
R0085:Rp1l1	UTSW	14	64,259,744 (GRCm39)	missense	probably damaging	0.99
R0347:Rp1l1	UTSW	14	64,268,253 (GRCm39)	nonsense	probably null
R0362:Rp1l1	UTSW	14	64,268,515 (GRCm39)	nonsense	probably null
R0369:Rp1l1	UTSW	14	64,266,837 (GRCm39)	missense	possibly damaging	0.84
R0538:Rp1l1	UTSW	14	64,259,541 (GRCm39)	missense	probably damaging	1.00
R0544:Rp1l1	UTSW	14	64,269,515 (GRCm39)	missense	probably benign	0.00
R0780:Rp1l1	UTSW	14	64,267,800 (GRCm39)	missense	possibly damaging	0.94
R0944:Rp1l1	UTSW	14	64,269,681 (GRCm39)	missense	probably benign	0.05
R1051:Rp1l1	UTSW	14	64,269,984 (GRCm39)	missense	probably damaging	0.99
R1126:Rp1l1	UTSW	14	64,267,918 (GRCm39)	missense	probably damaging	1.00
R1450:Rp1l1	UTSW	14	64,265,599 (GRCm39)	missense	probably benign	0.01
R1483:Rp1l1	UTSW	14	64,266,496 (GRCm39)	missense	possibly damaging	0.76
R1508:Rp1l1	UTSW	14	64,268,341 (GRCm39)	missense	possibly damaging	0.83
R1553:Rp1l1	UTSW	14	64,269,343 (GRCm39)	missense	probably benign	0.00
R1651:Rp1l1	UTSW	14	64,268,442 (GRCm39)	missense	probably damaging	0.97
R1682:Rp1l1	UTSW	14	64,266,417 (GRCm39)	missense	probably damaging	0.98
R1809:Rp1l1	UTSW	14	64,265,415 (GRCm39)	missense	probably benign	0.18
R1885:Rp1l1	UTSW	14	64,265,839 (GRCm39)	missense	probably benign	0.01
R1887:Rp1l1	UTSW	14	64,265,839 (GRCm39)	missense	probably benign	0.01
R1898:Rp1l1	UTSW	14	64,269,039 (GRCm39)	missense	probably benign	0.04
R1924:Rp1l1	UTSW	14	64,268,992 (GRCm39)	missense	probably benign
R1939:Rp1l1	UTSW	14	64,267,042 (GRCm39)	missense	probably benign
R1941:Rp1l1	UTSW	14	64,259,701 (GRCm39)	missense	probably damaging	1.00
R2129:Rp1l1	UTSW	14	64,266,415 (GRCm39)	missense	possibly damaging	0.93
R2363:Rp1l1	UTSW	14	64,267,447 (GRCm39)	missense	possibly damaging	0.55
R3894:Rp1l1	UTSW	14	64,266,756 (GRCm39)	missense	probably benign
R3974:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R3975:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R3976:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R4072:Rp1l1	UTSW	14	64,265,581 (GRCm39)	missense	probably damaging	1.00
R4672:Rp1l1	UTSW	14	64,268,719 (GRCm39)	missense	probably damaging	1.00
R4673:Rp1l1	UTSW	14	64,268,719 (GRCm39)	missense	probably damaging	1.00
R4749:Rp1l1	UTSW	14	64,267,249 (GRCm39)	missense	probably damaging	0.99
R4755:Rp1l1	UTSW	14	64,267,519 (GRCm39)	missense	probably benign	0.34
R4877:Rp1l1	UTSW	14	64,263,620 (GRCm39)	missense	probably benign	0.00
R4930:Rp1l1	UTSW	14	64,269,655 (GRCm39)	missense	probably benign
R5039:Rp1l1	UTSW	14	64,268,805 (GRCm39)	missense	probably benign	0.21
R5106:Rp1l1	UTSW	14	64,265,395 (GRCm39)	missense	probably damaging	1.00
R5184:Rp1l1	UTSW	14	64,267,629 (GRCm39)	missense	probably damaging	1.00
R5215:Rp1l1	UTSW	14	64,267,462 (GRCm39)	missense	probably benign	0.01
R5409:Rp1l1	UTSW	14	64,268,070 (GRCm39)	missense	probably benign	0.02
R5575:Rp1l1	UTSW	14	64,268,433 (GRCm39)	missense	probably benign	0.23
R5696:Rp1l1	UTSW	14	64,267,195 (GRCm39)	missense	probably damaging	0.99
R5739:Rp1l1	UTSW	14	64,269,619 (GRCm39)	missense	probably benign	0.01
R5878:Rp1l1	UTSW	14	64,266,355 (GRCm39)	missense	probably benign	0.09
R6133:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6135:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6428:Rp1l1	UTSW	14	64,269,838 (GRCm39)	missense	possibly damaging	0.92
R6594:Rp1l1	UTSW	14	64,269,126 (GRCm39)	nonsense	probably null
R6736:Rp1l1	UTSW	14	64,267,173 (GRCm39)	missense	possibly damaging	0.93
R6800:Rp1l1	UTSW	14	64,268,599 (GRCm39)	missense	possibly damaging	0.92
R6848:Rp1l1	UTSW	14	64,265,667 (GRCm39)	missense	possibly damaging	0.79
R6878:Rp1l1	UTSW	14	64,269,301 (GRCm39)	missense	probably benign	0.00
R6922:Rp1l1	UTSW	14	64,267,834 (GRCm39)	missense	possibly damaging	0.93
R6980:Rp1l1	UTSW	14	64,266,169 (GRCm39)	missense	probably benign	0.02
R7053:Rp1l1	UTSW	14	64,268,958 (GRCm39)	missense	possibly damaging	0.68
R7151:Rp1l1	UTSW	14	64,266,475 (GRCm39)	missense	possibly damaging	0.73
R7291:Rp1l1	UTSW	14	64,269,747 (GRCm39)	missense	probably benign	0.10
R7335:Rp1l1	UTSW	14	64,269,447 (GRCm39)	missense	probably benign	0.00
R7344:Rp1l1	UTSW	14	64,267,069 (GRCm39)	missense	probably benign	0.00
R7470:Rp1l1	UTSW	14	64,266,015 (GRCm39)	missense	probably benign
R7570:Rp1l1	UTSW	14	64,269,023 (GRCm39)	nonsense	probably null
R7585:Rp1l1	UTSW	14	64,267,588 (GRCm39)	missense	probably damaging	0.96
R7591:Rp1l1	UTSW	14	64,263,558 (GRCm39)	missense	probably damaging	1.00
R7667:Rp1l1	UTSW	14	64,267,252 (GRCm39)	missense	probably benign	0.04
R7862:Rp1l1	UTSW	14	64,265,476 (GRCm39)	missense	probably damaging	1.00
R7935:Rp1l1	UTSW	14	64,268,674 (GRCm39)	missense	probably damaging	0.99
R8256:Rp1l1	UTSW	14	64,265,602 (GRCm39)	missense	probably benign	0.18
R8403:Rp1l1	UTSW	14	64,266,258 (GRCm39)	missense	probably benign	0.21
R8709:Rp1l1	UTSW	14	64,269,295 (GRCm39)	missense	probably damaging	0.98
R8817:Rp1l1	UTSW	14	64,268,085 (GRCm39)	missense	probably benign
R8971:Rp1l1	UTSW	14	64,259,445 (GRCm39)	missense	probably damaging	1.00
R9380:Rp1l1	UTSW	14	64,266,475 (GRCm39)	missense	probably benign	0.29
R9438:Rp1l1	UTSW	14	64,265,574 (GRCm39)	missense	possibly damaging	0.90
R9501:Rp1l1	UTSW	14	64,266,039 (GRCm39)	missense	probably benign	0.00
R9652:Rp1l1	UTSW	14	64,269,714 (GRCm39)	missense	probably damaging	1.00
R9683:Rp1l1	UTSW	14	64,269,126 (GRCm39)	missense	probably damaging	0.97
X0057:Rp1l1	UTSW	14	64,267,489 (GRCm39)	missense	probably benign	0.14
X0063:Rp1l1	UTSW	14	64,266,672 (GRCm39)	missense	probably damaging	0.98
Z1088:Rp1l1	UTSW	14	64,267,827 (GRCm39)	missense	probably benign	0.01
Z1088:Rp1l1	UTSW	14	64,266,207 (GRCm39)	missense	possibly damaging	0.80
Z1176:Rp1l1	UTSW	14	64,266,593 (GRCm39)	missense	probably damaging	1.00
Z1177:Rp1l1	UTSW	14	64,269,746 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGGGGCTACCAATGAGCAC -3'
(R):5'- TCCTGGTACTTAGGGGACTC -3'

Sequencing Primer
(F):5'- GGCTACCAATGAGCACCCAGAG -3'
(R):5'- GTACTTAGGGGACTCTTCAAGCC -3'

Posted On

2017-10-10