Mutagenetix > Incidental Mutation

Incidental Mutation 'R3894:Rp1l1'

310467

Institutional Source

Beutler Lab

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 #

R3894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64229880-64270955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64266756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 781 (S781P)

Ref Sequence

ENSEMBL: ENSMUSP00000055449 (fasta)

Gene Model

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

AlphaFold

Q8CGM2

Predicted Effect

probably benign
Transcript: ENSMUST00000058229
AA Change: S781P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: S781P

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,503,363 (GRCm39)	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,673,762 (GRCm39)	Y457*	probably null	Het
Alpk3	C	T	7: 80,728,138 (GRCm39)	P423S	possibly damaging	Het
Aox1	A	T	1: 58,373,837 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,913,966 (GRCm39)	T1316A	probably benign	Het
Cul3	C	A	1: 80,261,407 (GRCm39)	V273F	probably damaging	Het
Dnah1	G	T	14: 31,028,985 (GRCm39)	R582S	probably benign	Het
Fbxl2	T	C	9: 113,832,261 (GRCm39)	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gdf7	A	G	12: 8,348,845 (GRCm39)	S151P	unknown	Het
Gm10277	T	C	11: 77,676,827 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,898,690 (GRCm39)	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,170,548 (GRCm39)	E259G	probably benign	Het
Ifi204	T	C	1: 173,576,774 (GRCm39)	H609R	possibly damaging	Het
Ift80	T	C	3: 68,825,332 (GRCm39)	D541G	probably damaging	Het
Il18r1	A	T	1: 40,514,034 (GRCm39)	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,304,294 (GRCm39)	G158S	probably damaging	Het
Mesd	T	A	7: 83,546,993 (GRCm39)	L152H	probably damaging	Het
Mmut	G	A	17: 41,266,030 (GRCm39)	C531Y	probably damaging	Het
Morf4l1	A	T	9: 89,976,501 (GRCm39)	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	A	G	11: 60,395,145 (GRCm39)	T2480A	probably benign	Het
Or2a52	A	T	6: 43,144,192 (GRCm39)	I67F	probably benign	Het
Or2y15	G	A	11: 49,350,766 (GRCm39)	G87R	possibly damaging	Het
Or4f47	T	C	2: 111,972,359 (GRCm39)	I23T	probably benign	Het
Or4g17	C	A	2: 111,209,982 (GRCm39)	F212L	probably benign	Het
Or5k16	A	G	16: 58,736,702 (GRCm39)	F101L	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcbp4	A	T	9: 106,338,570 (GRCm39)	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Rad50	T	A	11: 53,569,697 (GRCm39)	I905L	probably benign	Het
Rps3	C	T	7: 99,129,103 (GRCm39)	R173H	probably benign	Het
Rtn3	T	A	19: 7,412,450 (GRCm39)	T86S	probably damaging	Het
Sdha	A	T	13: 74,482,510 (GRCm39)	S268T	probably benign	Het
Sgo2b	A	T	8: 64,381,767 (GRCm39)	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,245,300 (GRCm39)	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,514,719 (GRCm39)	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,877,368 (GRCm39)	V165A	probably benign	Het
Slco3a1	A	G	7: 73,934,361 (GRCm39)	W604R	probably damaging	Het
Tet2	A	G	3: 133,175,238 (GRCm39)	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 123,158,731 (GRCm39)		probably null	Het
Tsga13	A	G	6: 30,889,198 (GRCm39)	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,477,449 (GRCm39)	T317A	probably benign	Het
Zcchc4	A	T	5: 52,941,442 (GRCm39)	D79V	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAATCAAGCCTCTGAGGAC -3'
(R):5'- TGGAGTTGGGCAGAAACTAC -3'

Sequencing Primer
(F):5'- AAGCCTCTGAGGACCTGAGATC -3'
(R):5'- CCTAAGCAGGCCTCAGAGATG -3'

Posted On

2015-04-17