Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02063:Rp1l1'

185514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rp1l1

Ensembl Gene

ENSMUSG00000046049

Gene Name

retinitis pigmentosa 1 homolog like 1

Synonyms

Dcdc4, Rp1hl1

Accession Numbers

Essential gene?

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

Stock #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

64229880-64270955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64266985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 857 (S857I)

Ref Sequence

ENSEMBL: ENSMUSP00000055449 (fasta)

Gene Model

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

AlphaFold

Q8CGM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000058229
AA Change: S857I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: S857I

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

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,614,581 (GRCm39)	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,480 (GRCm39)	R24G	probably damaging	Het
BC005624	A	G	2: 30,868,946 (GRCm39)	M76T	probably benign	Het
Blm	G	T	7: 80,159,167 (GRCm39)	S323*	probably null	Het
Card19	C	A	13: 49,356,607 (GRCm39)	G181*	probably null	Het
Cilp2	T	C	8: 70,335,515 (GRCm39)	I494M	probably damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,934,617 (GRCm39)	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,701 (GRCm39)	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,576,096 (GRCm39)	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,384,461 (GRCm39)	I466T	probably damaging	Het
Dlg2	T	A	7: 91,459,684 (GRCm39)		probably benign	Het
Esf1	C	A	2: 140,006,377 (GRCm39)	D257Y	possibly damaging	Het
Fgfr2	A	G	7: 129,769,485 (GRCm39)	F634S	probably damaging	Het
Flywch2	A	G	17: 23,996,081 (GRCm39)		probably benign	Het
Gbp10	A	T	5: 105,383,906 (GRCm39)	I32N	possibly damaging	Het
Gli3	A	G	13: 15,900,957 (GRCm39)	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,399,147 (GRCm39)		probably benign	Het
Golga5	A	T	12: 102,438,418 (GRCm39)	E44D	probably benign	Het
H2-M10.1	C	T	17: 36,634,901 (GRCm39)		probably benign	Het
Ino80b	A	T	6: 83,101,143 (GRCm39)	D141E	probably damaging	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Krt73	C	T	15: 101,704,204 (GRCm39)		probably benign	Het
Loxl4	G	T	19: 42,596,778 (GRCm39)	L78I	probably benign	Het
Mbd5	A	T	2: 49,164,779 (GRCm39)	N360I	probably damaging	Het
Nfat5	A	T	8: 108,088,450 (GRCm39)	M495L	probably benign	Het
Nrxn3	A	T	12: 88,762,565 (GRCm39)	E204V	possibly damaging	Het
Or8k21	G	T	2: 86,145,137 (GRCm39)	F164L	possibly damaging	Het
Paqr4	A	T	17: 23,958,886 (GRCm39)	C38*	probably null	Het
Pcdhb13	T	A	18: 37,577,282 (GRCm39)	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,534,810 (GRCm39)	M268K	probably benign	Het
Pdap1	A	T	5: 145,071,869 (GRCm39)		probably benign	Het
Phf2	A	T	13: 48,975,118 (GRCm39)	Y281N	unknown	Het
Phka2	T	A	X: 159,347,209 (GRCm39)	I664N	possibly damaging	Het
Plekha7	A	T	7: 115,739,936 (GRCm39)	D762E	possibly damaging	Het
Plekhg4	T	A	8: 106,105,884 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,740,706 (GRCm39)	Q1006L	probably null	Het
Pramel12	C	A	4: 143,144,421 (GRCm39)	Q256K	probably benign	Het
Prmt5	G	A	14: 54,748,477 (GRCm39)	Q197*	probably null	Het
Prodh	A	T	16: 17,897,049 (GRCm39)		probably null	Het
Ptgr3	T	A	18: 84,113,390 (GRCm39)	Y355*	probably null	Het
Rnft2	A	G	5: 118,380,587 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,372,992 (GRCm39)	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,291,854 (GRCm39)	Y1631H	probably damaging	Het
Slc22a5	A	T	11: 53,765,899 (GRCm39)	I229K	probably damaging	Het
Slco1a7	T	C	6: 141,684,615 (GRCm39)	D280G	probably benign	Het
Snd1	T	A	6: 28,526,220 (GRCm39)		probably benign	Het
Srrm1	G	T	4: 135,074,518 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,874 (GRCm39)	V5252A	probably damaging	Het
Tek	A	G	4: 94,627,882 (GRCm39)	D2G	probably benign	Het
Uba1	T	C	X: 20,545,964 (GRCm39)	S803P	probably damaging	Het
Uggt2	A	G	14: 119,326,605 (GRCm39)	I202T	possibly damaging	Het
Umodl1	A	T	17: 31,206,888 (GRCm39)	I760F	probably benign	Het
Vgll1	A	G	X: 56,144,569 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,676,276 (GRCm39)	V347A	probably benign	Het
Zswim9	T	C	7: 12,994,608 (GRCm39)	E516G	probably damaging	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
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
R6134: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

Posted On

2014-05-07