Mutagenetix > Incidental Mutation

Incidental Mutation 'R0027:Prl6a1'

44535

Institutional Source

Beutler Lab

Gene Symbol

Prl6a1

Ensembl Gene

ENSMUSG00000069259

Gene Name

prolactin family 6, subfamily a, member 1

Synonyms

PLP-B, Prlpb

MMRRC Submission

038322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0027 (G1) of strain 730

Quality Score

217

Status

Validated (trace)

Chromosome

Chromosomal Location

27496610-27503235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27502011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 126 (L126Q)

Ref Sequence

ENSEMBL: ENSMUSP00000089269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091679] [ENSMUST00000091680]

AlphaFold

O35257

Predicted Effect

probably damaging
Transcript: ENSMUST00000091679
AA Change: L131Q

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

SMART Domains

Protein: ENSMUSP00000089268
Gene: ENSMUSG00000069259
AA Change: L131Q

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:Hormone_1	21	235	8e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000091680
AA Change: L126Q

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

SMART Domains

Protein: ENSMUSP00000089269
Gene: ENSMUSG00000069259
AA Change: L126Q

Domain	Start	End	E-Value	Type
Pfam:Hormone_1	16	230	1.1e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119758

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,285,959 (GRCm39)	I723F	probably damaging	Het
Anapc1	G	T	2: 128,483,431 (GRCm39)	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 98,082,204 (GRCm39)	E1201V	possibly damaging	Het
Capn12	T	A	7: 28,581,385 (GRCm39)	H79Q	probably benign	Het
Caprin1	A	T	2: 103,605,925 (GRCm39)		probably benign	Het
Carmil3	T	A	14: 55,731,860 (GRCm39)	F196Y	probably damaging	Het
Casp8ap2	A	G	4: 32,643,810 (GRCm39)	H961R	probably benign	Het
Cdkl3	C	T	11: 51,923,176 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col13a1	A	G	10: 61,685,940 (GRCm39)	L684P	unknown	Het
D430041D05Rik	A	T	2: 104,085,389 (GRCm39)	F1053L	probably benign	Het
Dab1	T	C	4: 104,561,396 (GRCm39)		probably benign	Het
Dmxl1	A	T	18: 50,090,362 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eml1	T	C	12: 108,502,557 (GRCm39)	C708R	possibly damaging	Het
Fam131b	T	A	6: 42,295,182 (GRCm39)	M304L	probably benign	Het
Foxk1	A	T	5: 142,436,095 (GRCm39)	I321F	probably damaging	Het
Gm10306	C	T	4: 94,445,027 (GRCm39)		probably benign	Het
Gm10985	TA	TANA	3: 53,752,677 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,293,285 (GRCm39)		probably benign	Het
Hcn3	A	G	3: 89,067,132 (GRCm39)	S79P	probably damaging	Het
Hspa4	T	A	11: 53,174,412 (GRCm39)	M203L	probably benign	Het
Ints15	G	A	5: 143,293,817 (GRCm39)	T220I	probably damaging	Het
Kctd7	G	A	5: 130,181,414 (GRCm39)	R279H	probably damaging	Het
Kif11	C	T	19: 37,395,431 (GRCm39)		probably benign	Het
Klf13	T	C	7: 63,541,509 (GRCm39)	N206S	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lamc1	T	C	1: 153,138,329 (GRCm39)	Y175C	probably damaging	Het
Lrpprc	G	A	17: 85,074,435 (GRCm39)	R491*	probably null	Het
Madd	T	A	2: 90,982,894 (GRCm39)	I1350F	probably damaging	Het
Mbtd1	T	C	11: 93,815,375 (GRCm39)	V321A	possibly damaging	Het
Mon2	G	A	10: 122,871,953 (GRCm39)	S357L	possibly damaging	Het
Ndst3	A	G	3: 123,465,162 (GRCm39)	V270A	probably damaging	Het
Nlrp2	T	C	7: 5,325,447 (GRCm39)	T742A	probably damaging	Het
Nopchap1	G	A	10: 83,200,393 (GRCm39)		probably benign	Het
Or6d14	T	C	6: 116,533,910 (GRCm39)	S175P	probably damaging	Het
Papola	A	C	12: 105,799,395 (GRCm39)	S675R	probably benign	Het
Pcdh9	T	A	14: 94,126,081 (GRCm39)	I30F	probably null	Het
Prr29	A	G	11: 106,267,102 (GRCm39)	E89G	possibly damaging	Het
Psmd1	T	C	1: 86,021,987 (GRCm39)		probably benign	Het
Rad9b	A	G	5: 122,489,786 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,430,398 (GRCm39)	V939A	probably benign	Het
Rnf135	T	A	11: 80,084,768 (GRCm39)	S180R	probably benign	Het
Sarm1	C	A	11: 78,378,917 (GRCm39)	R376L	probably damaging	Het
Scap	C	A	9: 110,208,798 (GRCm39)	P613Q	probably benign	Het
Scube3	C	T	17: 28,383,331 (GRCm39)	R374*	probably null	Het
Setx	T	G	2: 29,029,233 (GRCm39)	V167G	probably damaging	Het
Snrnp40	T	A	4: 130,262,066 (GRCm39)	H151Q	probably damaging	Het
Sox21	G	T	14: 118,473,029 (GRCm39)	H7N	probably benign	Het
Stard9	A	T	2: 120,533,982 (GRCm39)	Q3413L	probably benign	Het
Sycp1	A	G	3: 102,803,226 (GRCm39)	V528A	probably benign	Het
Tcl1b3	A	T	12: 105,157,498 (GRCm39)	S47C	probably damaging	Het
Treml4	T	C	17: 48,571,962 (GRCm39)	S122P	possibly damaging	Het
Trip11	C	T	12: 101,851,428 (GRCm39)	A879T	probably benign	Het
Ubr4	C	A	4: 139,127,704 (GRCm39)	N567K	probably damaging	Het
Zan	T	C	5: 137,404,781 (GRCm39)		probably benign	Het
Zfp804a	G	A	2: 82,087,544 (GRCm39)	D458N	probably damaging	Het
Zic2	T	C	14: 122,713,755 (GRCm39)	M223T	possibly damaging	Het

Other mutations in Prl6a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Prl6a1	APN	13	27,500,347 (GRCm39)	missense	possibly damaging	0.72
IGL01688:Prl6a1	APN	13	27,501,969 (GRCm39)	missense	probably damaging	1.00
IGL01922:Prl6a1	APN	13	27,499,343 (GRCm39)	missense	possibly damaging	0.57
IGL02059:Prl6a1	APN	13	27,499,348 (GRCm39)	missense	probably benign	0.02
IGL03170:Prl6a1	APN	13	27,499,406 (GRCm39)	missense	possibly damaging	0.95
R0027:Prl6a1	UTSW	13	27,502,011 (GRCm39)	missense	probably damaging	1.00
R0049:Prl6a1	UTSW	13	27,501,980 (GRCm39)	missense	probably damaging	0.99
R0606:Prl6a1	UTSW	13	27,498,177 (GRCm39)	intron	probably benign
R0944:Prl6a1	UTSW	13	27,502,149 (GRCm39)	splice site	probably benign
R1518:Prl6a1	UTSW	13	27,502,911 (GRCm39)	missense	probably null	0.19
R1518:Prl6a1	UTSW	13	27,502,910 (GRCm39)	missense	possibly damaging	0.72
R1566:Prl6a1	UTSW	13	27,499,410 (GRCm39)	missense	possibly damaging	0.84
R1621:Prl6a1	UTSW	13	27,501,993 (GRCm39)	missense	probably benign	0.01
R2011:Prl6a1	UTSW	13	27,499,352 (GRCm39)	missense	probably benign	0.00
R2058:Prl6a1	UTSW	13	27,503,081 (GRCm39)	missense	probably benign	0.05
R2937:Prl6a1	UTSW	13	27,499,303 (GRCm39)	missense	probably damaging	0.98
R3079:Prl6a1	UTSW	13	27,502,983 (GRCm39)	missense	possibly damaging	0.71
R4685:Prl6a1	UTSW	13	27,500,307 (GRCm39)	missense	probably benign	0.00
R4856:Prl6a1	UTSW	13	27,502,983 (GRCm39)	missense	probably damaging	0.98
R4886:Prl6a1	UTSW	13	27,502,983 (GRCm39)	missense	probably damaging	0.98
R5495:Prl6a1	UTSW	13	27,496,654 (GRCm39)	missense	possibly damaging	0.95
R5923:Prl6a1	UTSW	13	27,500,346 (GRCm39)	missense	probably benign	0.08
R6772:Prl6a1	UTSW	13	27,503,031 (GRCm39)	missense	probably damaging	1.00
R7411:Prl6a1	UTSW	13	27,502,125 (GRCm39)	missense	probably damaging	1.00
R7501:Prl6a1	UTSW	13	27,500,282 (GRCm39)	missense	possibly damaging	0.69
R7549:Prl6a1	UTSW	13	27,502,954 (GRCm39)	missense	probably damaging	0.96
R7563:Prl6a1	UTSW	13	27,498,221 (GRCm39)	critical splice donor site	probably null
R7773:Prl6a1	UTSW	13	27,502,125 (GRCm39)	missense	probably damaging	1.00
R8024:Prl6a1	UTSW	13	27,502,678 (GRCm39)	intron	probably benign
R8994:Prl6a1	UTSW	13	27,499,417 (GRCm39)	missense	probably benign	0.01
R9129:Prl6a1	UTSW	13	27,502,064 (GRCm39)	missense
R9395:Prl6a1	UTSW	13	27,499,400 (GRCm39)	missense	possibly damaging	0.71
Z1177:Prl6a1	UTSW	13	27,499,304 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCAGTGCTACCACCAGTTTTATG -3'
(R):5'- ATTCTCCCTCTTGCCAAGGGAAGG -3'

Sequencing Primer
(F):5'- CAGGTCCTGTATCTGCTAGATGTAAC -3'
(R):5'- GATCTTCTAACACAATGGATGACTAC -3'

Posted On

2013-06-11